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May 1, 2024Genome ResearchOpen Access

A harmonized public resource of deeply sequenced diverse human genomes

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Authors

ZKZan KoenigBroad InstituteMYMary T. YohannesBroad InstituteLNLethukuthula L. NkambuleBroad Institute

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Implication

Harmonization analysis reveals over 153 million genetic variants in 80 diverse populations, highlighting a key reference resource for underrepresented ancestries.

Key Points

  • Harmonization of diverse human genomes identifies over 153 million high-quality snvs, indels, and svs, cataloging millions of previously unobserved rare variants.
  • Sequencing analysis of 4094 whole genomes from 80 populations characterizes global admixture, resolving distinct population structure across underrepresented cohorts.
  • Supports imputation pipelines across diverse ancestries, providing an open phased joint callset to improve variant discovery in underrepresented global populations.

Cite This Study

Koenig et al. (2024) studied this question.

synapsesocial.com/papers/68e6c02bb6db64358763f465https://doi.org/10.1101/gr.278378.123
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Also Consider

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